ABCMdb

PMID: 19447965

Erlich Y, Chang K, Gordon A, Ronen R, Navon O, Rooks M, Hannon GJ
DNA Sudoku--harnessing high-throughput sequencing for multiplexed specimen analysis.
Genome Res. 2009 Jul;19(7):1243-53. Epub 2009 May 15., [PubMed]

Sentences

No. Mutations Sentence Comment

214 ABCC7 p.Trp1282* To estimate the value of DNA Sudoku for the analysis of rare variants in individuals, we presented the process with a population in which two prevalent cystic fibrosis (CF) risk alleles were segregating, CFTR mutations DF508 (MIM: 602421.0001) and W1282X (MIM: 602421.0009). Login to comment 215 ABCC7 p.Trp1282* To estimate the value of DNA Sudoku for the analysis of rare variants in individuals, we presented the process with a population in which two prevalent cystic fibrosis (CF) risk alleles were segregating, CFTR mutations DF508 (MIM: 602421.0001) and W1282X (MIM: 602421.0009). Login to comment 225 ABCC7 p.Trp1282* The case of W1282X was more complex since pools that essentially contain no carriers may report a presence of a carrier because of sequencing error. Login to comment 226 ABCC7 p.Trp1282* The case of W1282X was more complex since pools that essentially contain no carriers may report a presence of a carrier because of sequencing error. Login to comment